Disclosures: Jessica Ace: No financial relationships or conflicts of interest

Case Diagnosis: Creutzfeldt-Jakob Disease

Case Description: A 61-year-old female with a history of meningioma treated by cyberknife, hypertension, chronic right hip and lower back pain, sciatica, and anxiety presented to an acute care hospital with two months of dizziness and diplopia. MRI brain showed symmetric signal abnormalities in the caudate, lentiform, and thalami bilaterally, and right mesial temporal lobe. On initial exam, patient exhibited myoclonus, mild ataxia, and nystagmus. Repeat MRI brain showed bilateral hyper-intensities in basal ganglia, thalamus, mesial temporal and frontal lobes. Extensive serum work-up was non revealing; ANA and SSA were positive without clinical evidence supporting Sjogren’s. She was treated with steroids without any improvement. Anti AQP was mildly elevated without clinical correlation. Initial EEG was normal. Repeat EEG four weeks later showed moderate to severe encephalopathy. Urine heavy metal screen showed mildly elevated cadmium levels with no obvious significance. CSF panel showed elevated 14-3-3 protein and T-tau protein, securing the diagnosis of Creutzfeldt-Jakob Disease (CJD). Over the hospitalization, her mental and clinical status rapidly declined. She regressed from regular solids with thins to pureed solids with honey-thick liquid via teaspoon. She initially required minimal assistance with static standing with a rolling walker and moderate assistance with dynamic standing but was dependent with sitting upon discharge.

Setting: Acute inpatient rehabilitation unitAssessment/

Results: Six weeks following her initial presentation to acute care, the patient developed acute hypoxic respiratory failure from aspiration pneumonia. She was subsequently admitted to inpatient hospice one week later and died within five days.

Discussion: This is a unique case of a patient who presented with ataxia of unknown etiology, functionally declined and through close monitoring, comprehensive diagnostics, and rehabilitation was properly diagnosed with CJD.

Conclusion: Through a collaborative effort between neurology and rehabilitation, the patient was diagnosed with CJD, aiding her family in foregoing futile treatment and pursuing end of life care.

Level of Evidence: Level V

« Back to AAPM&R Annual Assembly 2021

PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/how-comprehensive-diagnostics-and-rehabilitation-lead-us-to-the-diagnosis-creutzfeldt-jakob-disease-a-case-report/